It is only fairly recently that research has started focusing on people who have the Fragile X premutation, i.e. individuals who have a smaller expansion of the fragile X gene (FMR1). While it was previously thought that people with the Fragile X premutation were unaffected carriers of the syndrome, recent investigation has led researchers to believe that carriers too might experience certain physiological and psychological symptoms.
While physical effects of the premutation have been previously explored, less is known about how the premutation affects the behavioural traits and mental health of carriers, particularly female carriers. Existing research in this area tells us that some women with the premutation might be more at risk for various mental health concerns like depression, anxiety and social phobia. A small number of women with the premutation (approximately 5%) also meet criteria for a diagnosis on the autism spectrum. Some emerging evidence also suggests that some women with the fragile X premutation might show autistic traits, which are the very subtle characteristics which are otherwise also present in the general population, but which are more frequently observed in individuals with autism and their relatives. This does not necessarily mean that these women with premutation can be diagnosed as autistic, just that they share certain characteristics.
In our recent research study, we collaborated with colleagues at the University of Birmingham with the aim of gaining a better understanding of the psychological characteristics of the Fragile X premutation in women. Additionally, we felt it important to focus our investigation on whether the presence of autistic traits and mental health difficulties might relate to women’s experiences of caring for a child with Fragile X Syndrome. Parenting a child with learning difficulties and challenging behaviour may in itself be a cause of stress, anxiety and depression. We wanted to evaluate whether or not the risk of mental health difficulties or the presence of autistic traits in women with the FX premutation was the same as that reported in mothers of children with other neurodevelopmental disorders.
What did we do?
We invited women under the age of